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Silvia Racedo, Ph.D.

  • 264 Citations
  • 8 h-Index
20082018

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Publications

  • 264 Citations
  • 8 h-Index
  • 12 Article

Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome

Hasten, E., McDonald-McGinn, D. M., Crowley, T. B., Zackai, E., Emanuel, B. S., Morrow, B. E. & Racedo, S. E., Jun 1 2018, In : Human molecular genetics. 27, 11, p. 1847-1857 11 p.

Research output: Contribution to journal › Article

    • 4 Scopus citations

    Genetic drivers of kidney defects in the digeorge syndrome

    Lopez-Rivera, E., Liu, Y. P., Verbitsky, M., Anderson, B. R., Capone, V. P., Otto, E. A., Yan, Z., Mitrotti, A., Martino, J., Steers, N. J., Fasel, D. A., Vukojevic, K., Deng, R., Racedo, S. E., Liu, Q., Werth, M., Westland, R., Vivante, A., Makar, G. S., Bodria, M. & 62 others, Sampson, M. G., Gillies, C. E., Vega-Warner, V., Maiorana, M., Petrey, D. S., Honig, B., Lozanovski, V. J., Salomon, R., Heidet, L., Carpentier, W., Gaillard, D., Carrea, A., Gesualdo, L., Cusi, D., Izzi, C., Scolari, F., Van Wijk, J. A. E., Arapovic, A., Saraga-Babic, M., Saraga, M., Kunac, N., Samii, A., McDonald-McGinn, D. M., Crowley, T. B., Zackai, E. H., Drozdz, D., Miklaszewska, M., Tkaczyk, M., Sikora, P., Szczepanska, M., Mizerska-Wasiak, M., Krzemien, G., Szmigielska, A., Zaniew, M., Darlow, J. M., Puri, P., Barton, D., Casolari, E., Furth, S. L., Warady, B. A., Gucev, Z., Hakonarson, H., Flogelova, H., Tasic, V., Latos-Bielenska, A., Materna-Kiryluk, A., Allegri, L., Wong, C. S., Drummond, I. A., D'Agati, V., Imamoto, A., Barasch, J. M., Hildebrandt, F., Kiryluk, K., Lifton, R. P., Morrow, B. E., Jeanpierre, C., Papaioannou, V. E., Ghiggeri, G. M., Gharavi, A. G., Katsanis, N. & Sanna-Cherchi, S., Feb 23 2017, In : New England Journal of Medicine. 376, 8, p. 742-754 13 p.

    Research output: Contribution to journal › Article

    • 44 Scopus citations

    Reduced dosage of β-catenin provides significant rescue of cardiac outflow tract anomalies in a Tbx1 conditional null mouse model of 22q11.2 deletion syndrome

    Racedo, S., Hasten, E., Lin, M., Devakanmalai, G. S., Guo, T., Ozbudak, E. M., Cai, C. L., Zheng, D. & Morrow, B. E., Mar 1 2017, In : PLoS Genetics. 13, 3, e1006687.

    Research output: Contribution to journal › Article

    • 7 Scopus citations

    LPA receptor activity is basal specific and coincident with early pregnancy and involution during mammary gland postnatal development

    Acosta, D., Bagchi, S., Broin, P., Hollern, D., Racedo, S. E., Morrow, B., Sellers, R. S., Greally, J. M., Golden, A., Andrechek, E., Wood, T. & Montagna, C., Nov 3 2016, In : Scientific reports. 6, 35810.

    Research output: Contribution to journal › Article

    • 4 Scopus citations

    Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

    Mlynarski, E. E., Xie, M., Taylor, D., Sheridan, M. B., Guo, T., Racedo, S. E., McDonald-McGinn, D. M., Chow, E. W. C., Vorstman, J., Swillen, A., Devriendt, K., Breckpot, J., Digilio, M. C., Marino, B., Dallapiccola, B., Philip, N., Simon, T. J., Roberts, A. E., Piotrowicz, M., Bearden, C. E. & 11 others, Eliez, S., Gothelf, D., Coleman, K., Kates, W. R., Devoto, M., Zackai, E., Heine- Suñer, D., Goldmuntz, E., Bassett, A. S., Morrow, B. E. & Emanuel, B. S., Mar 1 2016, In : Human Genetics. 135, 3, p. 273-285 13 p.

    Research output: Contribution to journal › Article

    • 24 Scopus citations